BIOMAT Database Logo BIOMAT Database Logo

[Spontaneous level of sister chromatid exchanges in patients with tuberous sclerosis and Recklinghausen's neurofibromatosis]. 1987

L O Badalian, and N A Malygina, and B A Arkhipov, and N N Morozov, and O Iu Borodina

It is shown that the average number of sister chromatid exchanges (SCE) per one cell in patients with tuberous sclerosis as well as in those with Recklinghausen's neurofibromatosis do not differ from the control. But the non-parametric methods of analysis have revealed differences in the spontaneous level of SCE is patients with tuberous sclerosis, while no such differences were revealed in patients with Recklinghausen's neurofibromatosis.

UI MeSH Term Description Entries
D009456 Neurofibromatosis 1 An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). Peripheral Neurofibromatosis,Recklinghausen Disease of Nerve,von Recklinghausen Disease,Cafe-au-Lait Spots with Pulmonic Stenosis,Molluscum Fibrosum,NF1 (Neurofibromatosis 1),Neurofibromatosis I,Neurofibromatosis Type 1,Neurofibromatosis Type I,Neurofibromatosis, Peripheral Type,Neurofibromatosis, Peripheral, NF 1,Neurofibromatosis, Peripheral, NF1,Neurofibromatosis, Type 1,Neurofibromatosis, Type I,Pulmonic Stenosis with Cafe-au-Lait Spots,Recklinghausen Disease, Nerve,Recklinghausen's Disease of Nerve,Recklinghausens Disease of Nerve,Watson Syndrome,von Recklinghausen's Disease,Cafe au Lait Spots with Pulmonic Stenosis,Neurofibromatoses, Peripheral,Neurofibromatoses, Type I,Neurofibromatosis, Peripheral,Peripheral Neurofibromatoses,Pulmonic Stenosis with Cafe au Lait Spots,Syndrome, Watson,Type 1 Neurofibromatosis,Type 1, Neurofibromatosis,Type I Neurofibromatoses,Type I, Neurofibromatosis,von Recklinghausens Disease
D002478 Cells, Cultured Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others. Cultured Cells,Cell, Cultured,Cultured Cell
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D012854 Sister Chromatid Exchange An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME. Chromatid Exchange, Sister,Chromatid Exchanges, Sister,Exchange, Sister Chromatid,Exchanges, Sister Chromatid,Sister Chromatid Exchanges
D013194 Staining and Labeling The marking of biological material with a dye or other reagent for the purpose of identifying and quantitating components of tissues, cells or their extracts. Histological Labeling,Staining,Histological Labelings,Labeling and Staining,Labeling, Histological,Labelings, Histological,Stainings
D014402 Tuberous Sclerosis Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease. Bourneville Disease,Epiloia,Phakomatosis, Bourneville,Adenoma Sebaceum,Bourneville Phakomatosis,Bourneville Syndrome,Bourneville's Disease,Bourneville's Syndrome,Bourneville-Pringle Disease,Bourneville-Pringle's Disease,Cerebral Sclerosis,Phacomatosis, Bourneville,Sclerosis Tuberosa,Tuberose Sclerosis,Tuberous Sclerosis Complex,Bourneville Phacomatosis,Bourneville Pringle Disease,Bourneville Pringle's Disease,Bourneville-Pringles Disease,Cerebral Scleroses,Disease, Bourneville-Pringle,Disease, Bourneville-Pringle's,Sclerosis, Cerebral,Sclerosis, Tuberose,Sclerosis, Tuberous,Syndrome, Bourneville,Syndrome, Bourneville's

Related Publications

L O Badalian, and N A Malygina, and B A Arkhipov, and N N Morozov, and O Iu Borodina
Radiation-induced chromosome aberrations and sister chromatid exchanges in lymphocytes from patients with tuberous sclerosis.
September 1988, Jinrui idengaku zasshi. The Japanese journal of human genetics,
L O Badalian, and N A Malygina, and B A Arkhipov, and N N Morozov, and O Iu Borodina
[Individual variability in the level of spontaneous sister chromatid exchanges].
January 1988, TSitologiia i genetika,
L O Badalian, and N A Malygina, and B A Arkhipov, and N N Morozov, and O Iu Borodina
Spontaneous sister chromatid exchanges in chicken embryos.
January 2000, Hereditas,
L O Badalian, and N A Malygina, and B A Arkhipov, and N N Morozov, and O Iu Borodina
Demonstration of spontaneous sister chromatid exchanges in vivo.
October 1976, Experimental cell research,
L O Badalian, and N A Malygina, and B A Arkhipov, and N N Morozov, and O Iu Borodina
Sister chromatid exchanges in patients with retinoblastoma.
September 1982, Cancer genetics and cytogenetics,
L O Badalian, and N A Malygina, and B A Arkhipov, and N N Morozov, and O Iu Borodina
Sister chromatid exchanges.
January 1980, Advances in human genetics,
L O Badalian, and N A Malygina, and B A Arkhipov, and N N Morozov, and O Iu Borodina
Sister-chromatid exchanges.
May 1979, Genetics,
L O Badalian, and N A Malygina, and B A Arkhipov, and N N Morozov, and O Iu Borodina
Sister chromatid exchanges in leukemic patients.
February 1985, Cancer genetics and cytogenetics,
L O Badalian, and N A Malygina, and B A Arkhipov, and N N Morozov, and O Iu Borodina
Sister chromatid exchanges and chromosome aberrations in von Recklinghausen's disease--a family study.
January 1988, Hereditas,
L O Badalian, and N A Malygina, and B A Arkhipov, and N N Morozov, and O Iu Borodina
Spontaneous and induced sister-chromatid exchanges in cultured mosquito cells.
January 1986, Cytobios,
Copied contents to your clipboard!